Applied Genetics in Healthcare

Heather Skirton, Christine Patch, Janet Williams

• Publisher: Taylor & Francis
• Year: 2005
• Print ISBN: 9781859962749
• eBook ISBN: 9781135320898
• Topic: Biological Sciences
• Subtopic: Health Care Delivery
• Index: Biological Sciences

Increasingly, genomics is having an impact on mainstream healthcare. All health professionals will now be required to understand basic genetic concepts, but the depth of knowledge required will vary according to the role of the practitioner, and the setting in which he or she works.

Following the success of Genetics for Healthcare Professionals by Skirton and Patch, which was written for practitioners at foundation level, Applied Genetics in Healthcare approaches the issues of genetic healthcare at a more advanced level and is primarily intended as a handbook for those training or working as genetic specialists. However, the book will also be a useful resource for practitioners who specialize in particular fields of healthcare that require knowledge of genetics in specific topics. Those experienced in genetic healthcare will find the book to be a valuable handbook and a source of references for wider reading.

All of the authors have worked extensively in the field of genetic healthcare and have used their experience in both genetics nursing and genetics counseling to create a working handbook that is rooted in clinical practice.

1: Introduction to genetic healthcare

1.1 Defining genetic healthcare

This book is written as a handbook for those who provide genetic healthcare. Genetic healthcare is defined by the authors as any intervention by a health professional that is aimed at addressing the physical, psychological, cognitive, emotional, or social needs of an individual or family, in cases in which those needs are connected with the presence or risk of a genetic condition. These interventions are usually delivered by professionals with a nursing, genetic counseling, or medical training. Although the professional background will undoubtedly have some influence on the delivery of care, many of the competencies and skills that are required to provide such care are common to all groups of specialist practitioners.

Genetics became the focus of a specialist healthcare service—requiring a general genetics knowledge at an advanced level—in both the United Kingdom (UK) and the United States of America (USA) after World War II. However, before that time genetic healthcare was offered as part of the medical care open to families and individuals by doctors operating in other specialities. This was particularly evident in pediatrics, in which the genetic basis of the inborn errors of metabolism were identified about 100 years ago (Garrod, 1908), and in neurology, in which patients affected by adult-onset inherited conditions (such as ‘Huntington’s chorea’ and Charcot MarieTooth disease) were treated. Currently, genetic services are mainly provided through specialist genetic centers, or in disease-focused programs, and by professionals with specific appropriate training working with colleagues in closely related fields.

Delivery of appropriate genetic healthcare is based on a belief that individuals have an inherent right to be properly informed about the genetic risks and reproductive options that might affect them, and that they should be supported during any decision-making process (Clarke, 1997).

In many specialist genetic centers, a multi-professional team approach enables a variety of expertise to be utilized to enhance client care. This book is written as a handbook for practitioners who provide genetic services, whether in a genetic center or as part of a team that provides genetic healthcare to a group of patients with a specific genetic health need.

1.2 Definition of genetic counseling

The aim of genetic services is to assist people who are at risk of developing or carrying a genetic disease to live and reproduce as normally as possible (Pembrey, 1996). This involves making accurate diagnoses, a discussion of appropriate options for testing or reproduction, and offering psychosocial support to families using the service (Clarke, 1997).

The definition of genetic counseling that is accepted in North America and in the UK, as well as in many other countries, was written by the American Society for Human Genetics (ASHG) in 1975. Although more than 30 years have passed since it was first written, it still accurately reflects the extent of services provided under the title ‘genetic counseling’. It states that genetic counseling is:

‘a communication process which deals with human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to [1] comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management; [2] appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives; [3] understand the alternatives for dealing with the risk of recurrence; [4] choose the course of action which seems to them appropriate in view of their risk, their family goals and their ethical and religious standards, and to act in accordance with that decision; and [5] make the best possible adjustment to the disorder in an affected family member and/or the risk of recurrence of that disorder’ (American Society of Human Genetics, 1975).

1.3 Genetic services within a healthcare system

The organization of genetic services necessarily varies from country to country. It is affected by the structure of the healthcare system, funding of healthcare, routes for professional education, statutory regulation of healthcare professionals, and healthcare culture and traditions. In many countries, other healthcare issues dictate to a large degreeThe organization of genetic services necessarily varies from country to country. It is affected by the structure of the healthcare system, funding of healthcare, routes for professional education, statutory regulation of healthcare professionals, and healthcare culture and traditions. In many countries, other healthcare issues dictate to a large degree—to the extent that genetics is, of necessity, a low priority at present. In this chapter, the professional practice of non-medically trained practitioners, such as genetics nurses and genetic counselors in the UK and USA, are described, but these are by no means the only models of practice.

Genetic services in Europe

Clinical genetic services are established in at least 29 different countries in Europe, although the level of service is extremely varied. In some countries, such as the UK, Belgium, Denmark, the Netherlands, and Norway, a team approach is taken and both medical and non-medical personnel are part of the team who provide genetic healthcare. In the UK and the Netherlands, most genetic counselors initially trained in nursing or a similar paramedical field, but in Belgium genetic counselors frequently have a background in psychology. Recently, a Master’s degree course in genetic counseling was approved in France to train genetic practitioners in that country. There has been a powerful medical influence on the practice of genetics nurses and counselors within Europe, as doctors usually lead clinical genetic services. Whereas in the UK genetics isdesignated a medical specialty, this is not the case in other areas of Europe, and therefore genetic counseling may be undertaken by doctors trained in other related specialties, such as obstetrics or pediatrics.

Specialist genetic services are provided in the UK by teams working in Regional Genetics Centres that are publicly funded by the National Health Service. This means that clients are able to access services free of charge. The genetics team usually includes medically trained clinical geneticists and non-medical genetic counselors. In the UK, most genetic counselors have a background in nursing, although there are an increasing number who enter the field from non-clinical backgrounds after completing a postgraduate Master’s degree in genetic counseling. All use the term ‘genetic counselor’ as a professional title.

Specialist practitioners are now registered as genetic counselors by the Association of Genetic Nurses and Counsellors (AGNC) Registration Board (Skirton et al., 2003). Genetics nurses and counselors practicing in the UK are bound by the AGNC Code of Ethics and are eligible for registration if they are either a registered nurse with a Bachelor’s or higher degree or have completed an approved Master’s degree. The practitioner demonstrates competence by submission of a portfolio of evidence after at least 2 years of mentored experience in genetic healthcare (AGNC, 2004). The AGNC competencies are listed in Box 1.1.

Box 1.1 AGNC competencies for UK genetic counselors

Core competencies for the practice of genetic counseling
The genetic counselor is able to:

Communication skills

• Establish a relationship with the client and elicit the client’s concerns and expectations.
• Elicit and interpret appropriate medical, family, and psychosocial history.
• Convey clinical and genetic information to clients appropriate to their individual clinical needs.
• Explain the options available to the client, including risks, benefits and limitations.
• Document information, including case notes and correspondence in an appropriate manner.
• Plan, organize, and deliver professional and public education.

Interpersonal, counseling and psychosocial skills

• Identify and respond to emerging issues of a client or family.
• Acknowledge the implications of individual and family experiences, beliefs, values, and culture for the genetic counseling process.
• Make a psychosocial assessment of the client’s needs and resources, and provide support, ensuring referral to other agencies as appropriate.
• Use a range of counseling skills to facilitate the client’s adjustment and decisionmaking.
• Establish effective working relationships to function within a multi disciplinary genetics team and as part of the wider healthcare and social care network.

Ethical practice

• Recognize and maintain professional boundaries.
• Demonstrate reflective skills within the counseling context, and in personal awareness for the safety of clients and families, by participation in counseling/clinical supervision.
• Practice in accordance with the AGNC Code of Ethical Conduct.
• Present opportunities for clients to participate in research projects in a manner that facilitates informed choice.
• Recognize his or her own limitations in knowledge and capabilities and discuss with colleagues or refer clients when necessary.
• Demonstrate continuing professional development as an individual practitioner and for the development of the profession.
• Contribute to the development and organization of genetic services.

Critical thinking skills

• Make appropriate and accurate genetic risk assessment
• Identify, synthesize, organize, and summarize relevant medical and genetic information for use in genetic counseling.
• Demonstrate the ability to organize and prioritize a caseload.
• Identify and support clients’ access to local, regional and national resources and services.
• Develop the necessary skills to critically analyze research findings to inform practice development

AGNC (2004) www:agnc.co.uk/Registration/competencies

Genetic services in the USA

As in the UK, genetic services are provided by a variety of healthcare professionals in the USA. However, in the USA, genetic healthcare services are provided by employers whose healthcare programs may be established on either a for-profit or not-for-profit status. These employers include academic medical centers, government-operated healthcare services, privately owned genetics laboratories, and privately owned healthcare practices. Funding of services is dependent on a variety of factors that are related to the client’s financial and insurance status, and also on the fiscal basis of the service. Commonly, a person is referred for genetic services by his or her healthcare provider, but in some locations clients may self-refer.

A client who wishes to have a genetic assessment or genetic counseling from a specialist may receive these services in tertiary-care centers (such as major medical centers) that are owned either by academic institutions or private companies. One example is the care provided in a medical genetics clinic in a university-owned hospital, in which board-certified or credentialed genetic counselors, and also advanced practicegenetics nurses, undertake practice. Genetic services are also provided in healthcare practices that focus on one aspect of health, such as cancer or prenatal care, for those whose need for service lies within that specific category (e.g. oncology services or reproductive healthcare).

Professional organizations define guidelines for practice as a genetics specialist and maintain responsibility for administering credentialing programs for genetics specialists. Registered nurses, genetic counselors and medical doctors can qualify to become certified or to be credentialed as genetics specialists in their own profession. Some states in the USA have, or are considering passing legislation to institute, state licensing rules and regulations for genetic counselors.

The professional role of the genetics nurse and the genetic counselor

Genetics nurses and genetic counselors share a common mission of providing genetic healthcare to individuals, families and communities. These roles encompass individual client healthcare, advocacy for individuals and their families, membership in multidisciplinary healthcare systems, participation in program management and evaluation, and involvement in clinical genetics-focused research. Although the scope of genetic healthcare roles can be quite broad, documents that describe the roles of genetics nurses and genetic counselors specifically describe the clinical aspects of genetics nursing or genetic counseling practice. In many countries, such as the UK, the work is undertaken in a genetic center by persons of either a genetics nursing or genetic counseling background. However, in some areas of the USA, there is greater differentiation in the roles.

In the USA, the professional role of the genetics nurse is defined by the scope of practice of genetics nursing (ISONG, 1998) and the regulations defining nursing practice in state professional licensure rules and regulations. The professional role of the genetic counselor is based on the counselor’s education, certification as a genetic counselor, and, to some degree, expectations in the genetic counselors’ employment setting. In those states that have genetic counseling licensure rules and regulations, the scope of practice is defined by the licensure rules and regulations.

In 1998, The Genetic Nursing Credentialing Commission (GNCC) was established by members of the International Society of Nurses in Genetics for the purpose of establishing and providing credentialing of genetics nurses (Cook et al., 2003). The GNCC developed criteria for credentialing of nurses at either the Genetics Clinical Nurse (GCN) or the Advanced Practice Nurse in Genetics (APNG) level. Each credential is awarded on successful completion of review of a portfolio that contains evidence of completion of requirements in education and practice in the nurse’s area of genetic expertise.

Genetics nurses are licensed professional nurses that have had special education and training in genetics. The professional role of the genetics nurse has its foundation in nursing, and is based on theories of nursing, genetic biology, behavioral and medical sciences (ISONG, 1998). Application of this knowledge throughout the processes of assessment, identification of outcomes of care, interventions and evaluation is the responsibility of the genetics nurse. Specific aspects of genetics nursing practice are defined in the GNC and APNG credentialing process (Box 1.2). Nurses may participatein the administration and monitoring of therapeutics as specified by their professional nursing license (Greco and Mahon, 2003; ISONG, 1998).

Box 1.2 Definition of genetics nursing practice in the USA

Aspects of genetics nursing practice defined in the GNC and APNG credentialing process include:

• collecting and interpreting comprehensive client information, including a g...

Table of contents

• Cover Page
• Title Page
• Copyright Page
• Preface
• Using This Book
• Abbreviations
• 1: Introduction to Genetic Healthcare
• 2: Foundations in Genetic Science
• 3: Working Practically in Genetic Healthcare
• 4: Working Professionally in Genetic Healthcare
• 5: Working to Support Families
• 6: Working as an Educator for Families and Professionals
• 7: Working as a Researcher
• 8: Autosomal Dominant Inheritance
• 9: Autosomal Recessive Inheritance
• 10: X-Linked Inheritance
• 11: Familial Cancer
• 12: Chromosomal and Non-Traditional Patterns of Inheritance
• 13: Multifactorial Inheritance and Common Diseases
• Appendix I: Use of Genetics Knowledge by Advancedlevel Practitioners
• Answers/Possible Responses to Study Questions
• Web-Based Resources for Genetic Healthcare Professionals
• Glossary of Terms